Canonical Allele Identifier: CA395954658

Gene: GNAO1

Linked Data

• COSMIC: COSM349206
• MyVariant Identifiers: chr16:g.56385330C>A (hg19) ; chr16:g.56351418C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351418C>A , CM000678.2:g.56351418C>A	GRCh38
NC_000016.9:g.56385330C>A , CM000678.1:g.56385330C>A	GRCh37
NC_000016.8:g.54942831C>A	NCBI36
NG_042800.1:g.165080C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.758C>A MANE Select	ENSP00000262493.6:p.Ser253Tyr
ENST00000562316.6:c.425C>A	ENSP00000457238.2:p.Ser142Tyr
ENST00000564727.2:c.62C>A	ENSP00000454971.2:p.Ser21Tyr
ENST00000568375.2:c.116-3448C>A
ENST00000638185.1:n.973C>A
ENST00000638210.1:n.1058C>A
ENST00000638705.1:c.758C>A	ENSP00000491223.1:p.Ser253Tyr
ENST00000638836.1:n.668C>A
ENST00000639055.1:n.1479C>A
ENST00000639251.1:n.659C>A
ENST00000639268.1:c.393C>A
ENST00000639341.1:c.283C>A
ENST00000639770.1:c.796C>A	ENSP00000491999.1:n.796C>A
ENST00000640390.1:n.688C>A
ENST00000640469.1:c.122C>A	ENSP00000491875.1:p.Ser41Tyr
ENST00000640560.1:n.534C>A
ENST00000640893.1:c.*156C>A	ENSP00000492677.1:n.*156C>A
ENST00000262493.10:c.758C>A	ENSP00000262493.6:p.Ser253Tyr
ENST00000568375.1:n.116-3448C>A
NM_020988.2:c.758C>A	NP_066268.1:p.Ser253Tyr
XM_011523003.1:c.632C>A	XP_011521305.1:p.Ser211Tyr
XM_011523003.3:c.632C>A	XP_011521305.1:p.Ser211Tyr
NM_020988.3:c.758C>A MANE Select	NP_066268.1:p.Ser253Tyr